Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.C85S

SNAP25

317 papers

RefSeq Summary

Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target me...

Pfam Domains

SNAP-25aa 91–142UCSCSNAP-25 family

Gene Aliases

HGNC Name

synaptosome associated protein 25

HGNC Alias Symbols

SNAP-25; RIC-4; RIC4; SEC9; bA416N4.2; dJ1068F16.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_130811.4
p.C85S
c.253T>A
Surrounding Variants
12 papers
NM_130811.4
p.C85S
c.254G>C
1 paper
NM_130811.4
p.C85*
c.255C>A
2 papers
NM_130811.4
p.F84C
c.251T>G
6 papers
NM_130811.4
p.C88S
c.262T>A
6 papers
NM_130811.4
p.C88S
c.263G>C
1 paper
NM_130811.4
p.L81V
c.241C>G
1 paper
NM_130811.4
p.V89M
c.265G>A
1 paper
NM_130811.4
p.D80Y
c.238G>T
12 papers
NM_130811.4
p.C90S
c.268T>A
12 papers
NM_130811.4
p.C90S
c.269G>C
1 paper
NM_130811.4
p.C90insFs
c.270dupT
1 paper
NM_130811.4
p.C90delFs
c.270delT
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